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https://www.readbyqxmd.com/read/29155101/type-i-ifn-related-netosis-in-ataxia-telangiectasia-and-artemis-deficiency
#1
Ersin Gul, Esra Hazar Sayar, Bilgi Gungor, Fehime Kara Eroglu, Naz Surucu, Sevgi Keles, Sukru Nail Guner, Sıddıka Fındık, Esin Alpdündar, Ihsan Cihan Ayanoglu, Basak Kayaoglu, Busra Nur Geçkin, Hatice Asena Sanli, Tamer Kahraman, Cengiz Yakicier, Meltem Muftuoglu, Berna Oguz, Deniz Nazire Cagdas Ayvaz, Ihsan Gursel, Seza Ozen, Ismail Reisli, Mayda Gursel
BACKGROUND: Pathological inflammatory syndromes of unknown etiology are commonly observed in Ataxia telangiectasia (AT) and Artemis deficiency. Similar inflammatory manifestations also exist in STING-associated vasculopathy in infancy (SAVI) patients. OBJECTIVE: To test the hypothesis that the inflammation associated manifestations observed in AT and Artemis deficient patients stem from increased type I IFN signature leading to neutrophil mediated pathological damage...
November 15, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29155086/systemic-exposure-of-vinpocetine-in-pregnant-sprague-dawley-rats-following-repeated-oral-exposure-an-investigation-of-fetal-transfer
#2
Suramya Waidyanatha, Heather Troy, Natalie South, Seth Gibbs, Esra Mutlu, Brian Burback, Barry S McIntyre, Natasha Catlin
Vinpocetine is being used worldwide by people of all ages, including pregnant women, for its purported multiple health benefits. However, limited data is available addressing the safety/toxicity of vinpocetine. The National Toxicology Program conducted studies to examine potential effects of vinpocetine on the developing rat. Disposition data is helpful to put the fetal findings into context and provide information on the potential risk for humans. The current study reports the systemic exposure and toxicokinetic (TK) parameters of vinpocetine and metabolite, apovincaminic acid (AVA), in pregnant Harlan Sprague Dawley rats, fetuses and amniotic fluid following oral gavage exposure of dams to 5 and 20mg/kg vinpocetine from gestational day 6 to 18...
November 15, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29153594/the-effectiveness-of-extracorporeal-shockwave-treatment-in-subacromial-impingement-syndrome-and-its-relation-with-acromion-morphology
#3
Esra Circi, Sibel Caglar Okur, Ozge Aksu, Erhan Mumcuoglu, Tolga Tuzuner, Nil Caglar
OBJECTIVE: The aim of this study was to evaluate the effectiveness of the extracorporeal shock wave therapy in the subacromial impingement syndrome and its relationship with the acromion morphology. METHODS: Thirty patients (24 women, 6 men) with subacromial impingement were evaluated. The average age of patients was 53.6 ± 9.8 years (range 39-80). Patients were divided into 3 groups according to the acromion morphology. ESWT 1500 at 0.12 am mL/mm(2) violence was applied once a week for 3 weeks...
November 16, 2017: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/29153070/-the-importance-of-the-contribution-of-rapid-test-serological-and-molecular-methods-in-the-diagnosis-of-two-imported-malaria-cases-with-atypical-microscopy
#4
Orçun Zorbozan, Hüsnü Pullukçu, Esra Atalay Şahar, Muhammet Karakavuk, Hüseyin Can, Varol Tunali, Mert Döşkaya, Nevin Turgay, Seray Töz, Ahmet Özbilgin
Malaria is a widespread and life-threatening disease in tropical and subtropical regions. In patients with typical clinical symptoms, malaria is considered as a preliminary diagnosis if there is a travel history to malaria-endemic areas. The basis of the laboratory diagnosis of malaria is the microscopic examination of Giemsa stained smears. On the other hand, the diagnosis and differentiation of Plasmodium species with microscopic examination may have some difficulties. In the first case, adifferent appearance from the classical Plasmodium vivax erythrocytic forms in infected erythrocytes were detected in 1% of all erythrocytes in thin smear blood preparations of a 26-year-old male with complaints of fever and chills and a story of travel to Nigeria...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153062/-diagnostic-accuracy-of-the-lightcycler%C3%A2-septifast-assay-in-the-childhood-febrile-neutropenia
#5
Esra Mimaroğlu, Elvan Çağlar Çıtak, Necdet Kuyucu, Gönül Arslan
Infection is the main problem among the patients receiving cancer therapy. The mortality rate can be reduced by the appropriate treatment in the right time. Although blood culture is the gold standard for the diagnoses of sepsis, many factors influence the results of blood culture in children. For this reason, real time polymerase chain reaction (Rt-PCR) has gained importance for the diagnoses of microbiological agents as it is faster than the conventional methods. In this study, we aimed to compare the efficacy of SeptiFast (SF) test with blood culture among children with neutropenic fever...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29153061/-defining-of-gene-mutations-and-minimal-inhibitory-concentrations-in-isoniazid-resistant-mycobacterium-tuberculosis-isolates
#6
Esra Yıldırım, Meltem Uzun
Tuberculosis is a very important disease all over the world despite the advanced diagnostic and treatment regimens. Resistant tuberculosis, which has increased in recent years in particular, is a global problem and prevents the fight against tuberculosis. For this reason, it is important to determine the etiologic agent early and its sensitivity against antituberculosis drugs. Resistance profiles of the isolates and the gene mutations causing resistance are determined for epidemiological purposes and mutation regions of the isolates are being investigated on the basis of countries...
October 2017: Mikrobiyoloji Bülteni
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#7
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135394/real-life-profile-of-asthma-and-chronic-obstructive-pulmonary-disease-patients-in-turkey
#8
Zeynep Mısırlıgil, Arif Çımrın, Hakan Günen, Tevfik Özlü, Aykut Çilli, Levent Akyıldız, Hasan Bayram, Bilun Gemicioğlu, Esra Uzaslan, Öznur Abadoğlu, Mecit Suerdem
Introduction: Despite the presentation of similar symptoms, the airway diseases have different underlying pathophysiological processes and must be distinguished to enable the administration of appropriate treatment. In several studies the clinician- and patient-related causes of poor compliance to treatment in asthma/chronic obstructive pulmonary disease (COPD) patients have been evaluated. This study aimed to determine the clinical and sociodemographic characteristics of newly diagnosed treatment-naïve asthma and COPD patients in Turkey...
September 2017: Tüberküloz Ve Toraks
https://www.readbyqxmd.com/read/29133640/evaluation-of-spectral-domain-optical-coherence-tomography-parameters-in-ocular-hypertension-preperimetric-and-early-glaucoma
#9
Tuğba Aydogan, BetÜl İlkay Sezgin Akçay, Esra Kardeş, Ahmet Ergin
PURPOSE: The objective of this study is to evaluate the diagnostic ability of retinal nerve fiber layer (RNFL), macular, optic nerve head (ONH) parameters in healthy subjects, ocular hypertension (OHT), preperimetric glaucoma (PPG), and early glaucoma (EG) patients, to reveal factors affecting the diagnostic ability of spectral domain-optical coherence tomography (SD-OCT) parameters and risk factors for glaucoma. METHODS: Three hundred and twenty-six eyes (89 healthy, 77 OHT, 94 PPG, and 66 EG eyes) were analyzed...
November 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#10
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29125997/non-suicidal-self-injury-emotional-eating-and-insomnia-after-child-sexual-abuse-are-those-symptoms-related-to-emotion-regulation
#11
Esra Demirci
OBJECTIVE: The aim of this article was to assess the effects of child sexual abuse (CSA) on emotion regulation (ER) in adolescents and to evaluate the relationships between non suicidal self-injury (NSSI), emotional eating, insomnia and emotion disregulation (ED). METHOD: Fifty two adolescents, aged 10-18 years, without who weren't diagnosed a psychiatric disease before abuse and completed 6-months of follow-up after abuse included the study. Control group consisted of 33 healthy voluntary participants without any known psychiatric disorders...
November 7, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29100093/de-novo-mutations-in-slc25a24-cause-a-craniosynostosis-syndrome-with-hypertrichosis-progeroid-appearance-and-mitochondrial-dysfunction
#12
Nadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, Rainer Koenig, Lara Segebrecht, Pilar Magoulas, Fernando Scaglia, Esra Kilic, Anna F Hennig, Nicolai Adolphs, Namrata Saha, Beatrix Fauler, Vera M Kalscheuer, Friederike Hennig, Janine Altmüller, Christian Netzer, Holger Thiele, Peter Nürnberg, Gökhan Yigit, Marten Jäger, Jochen Hecht, Ulrike Krüger, Thorsten Mielke, Peter M Krawitz, Denise Horn, Markus Schuelke, Stefan Mundlos, Carlos A Bacino, Penelope E Bonnen, Bernd Wollnik, Björn Fischer-Zirnsak, Uwe Kornak
Gorlin-Chaudhry-Moss syndrome (GCMS) is a dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalanges. Variable lipoatrophy and cutis laxa are the basis for a progeroid appearance. Using exome and genome sequencing, we identified the recurrent de novo mutations c.650G>A (p.Arg217His) and c.649C>T (p.Arg217Cys) in SLC25A24 in five unrelated girls diagnosed with GCMS. Two of the girls had pronounced neonatal progeroid features and were initially diagnosed with Wiedemann-Rautenstrauch syndrome...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29093226/pleistocene-population-expansions-of-shade-tolerant-trees-indicate-fragmentation-of-the-african-rainforest-during-the-ice-ages
#13
Rosalía Piñeiro, Gilles Dauby, Esra Kaymak, Olivier J Hardy
The fossil record in tropical Africa suggests that dry conditions during the Ice Ages caused expansion of savannahs and contraction of the rainforest. Forest refugia have been proposed to be located in areas of Central Africa that currently harbour high rates of endemic species. However, to what extent the forest was fragmented remains unknown. Nuclear microsatellites and plastid sequences of 732 trees of two species occurring in the same habitat-mature lowland evergreen rainforests-but with remarkably different dispersal capacities-animal versus gravity-were analysed...
November 15, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29082892/retinal-neural-and-vascular-structure-in-isolated-growth-hormone-deficiency-children-and-evaluation-of-growth-hormone-treatment-effect-on-retina
#14
Özge Yüce, Nuriye Gökçen Yalçın, Aysun Bideci, Esra Döğer, Hamdi Cihan Emeksiz, Murat Hasanreisoğlu, Zeynep Aktaş, Orhun Çamurdan, Peyami Cinaz
OBJECTIVE: Our aim was to evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes of GH treatment. METHODS: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer(RNFL), macular thickness(MT) were measured, as well as intraocular pressure(IOP) . The number of retinal vascular branching points were calculated...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29081826/antipsychotic-use-pattern-in-schizophrenia-outpatients-correlates-of-polypharmacy
#15
Esra Yazici, Ali S Cilli, Ahmet B Yazici, Hayriye Baysan, Mustafa Ince, Sukriye Bosgelmez, Serkan Bilgic, Betul Aslan, Atila Erol
BACKGROUND: This study investigates the antipsychotic use patterns of patients with schizophrenia and its correlations in their daily drug use patterns. METHODS: Patients with schizophrenia who have regular records at two different community counselling centres (CCS) were included in the study. Information about their medications and sociodemographic data was recorded through face-to-face interviews and supporting information about their drug use patterns was obtained from their relatives/caregivers/nurse...
2017: Clinical Practice and Epidemiology in Mental Health: CP & EMH
https://www.readbyqxmd.com/read/29081366/central-nervous-system-infections-in-the-absence-of-cerebrospinal-fluid-pleocytosis
#16
Hakan Erdem, Derya Ozturk-Engin, Yasemin Cag, Seniha Senbayrak, Asuman Inan, Esra Kazak, Umit Savasci, Nazif Elaldi, Haluk Vahaboglu, Rodrigo Hasbun
Previous multicenter/multinational studies were evaluated to determine the frequency of the absence of cerebrospinal fluid pleocytosis in patients with central nervous system infections, as well as the clinical impact of this condition. It was found that 18% of neurosyphilis, 7.9% of herpetic meningoencephalitis, 3% of tuberculous meningitis, 1.7% of Brucella meningitis, and 0.2% of pneumococcal meningitis cases did not display cerebrospinal fluid pleocytosis. Most patients were not immunosuppressed. Patients without pleocytosis had a high rate of unfavorable outcomes and thus this condition should not be underestimated...
November 10, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/29073985/cost-evaluation-of-inhaler-therapies-used-in-respiratory-diseases-1998-2015-period-in-turkey
#17
Banu Bayar, Nurcan Uman Kutkan, Esra Şafak Yılmaz, Çiğdem Tolun, Engin Doğan, Enver Kağan Atikeler, Elif Hilal Vural, Salih Babacan, Nurgül Karabekmez, Aslıhan Beyan, İsmail Mert Vural, İpek Kıvılcım Oğuzülgen, Güven Bektemür, Simten Malhan, Rabia Kahveci, Sedat Altın, Ali Alkan, Hakan Eroğlu, Hakkı Gürsöz
BACKGROUND: With the rise in life expectancy, the burden of chronic diseases, including obstructive pulmonary diseases, has increased throughout the world. OBJECTIVES: To evaluate the sales trends of inhaler pharmaceuticals. METHODS: The changes in box sales and sales amounts (in Turkish lira) of inhaler pharmaceuticals during the period 1998 to 2015 were examined and sales were projected for the next 3 years. Pharmaceuticals were classified according to form and pharmacological groups...
September 2017: Value in Health Regional Issues
https://www.readbyqxmd.com/read/29073788/affective-temperaments-during-pregnancy-and-postpartum-period-a-click-to-hyperthymic-temperament
#18
Esra Yazici, Hilal Uslu Yuvaci, Ahmet Bulent Yazici, Arif Serhan Cevrioglu, Atila Erol
BACKGROUND: Pregnancy and postpartum periods are the main reproductive periods during which women experience mood disorders. Affective temperaments are known antecedents of mood disorders and their importance is increasing in time for early diagnosis and determining risky groups. But data about affective temperaments during perinatal period is limited. METHODS: Women during pregnancy and perinatal period and healthy controls who are not in perinatal period are included in the study...
October 26, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29073762/can-biomimetic-zinc-compounds-assist-a-3-2-cycloaddition-reaction-a-theoretical-perspective
#19
Esra Bozkurt, Thereza A Soares, Ursula Rothlisberger
Compounds bearing tetrazole rings are valuable facets in numerous branches of chemistry including metabolic imaging and the production of drugs and high-energy materials. Synthesis of tetrazoles with the help of organocatalysts has intensively been explored, while enzyme-directed click chemistry has attracted less attention and was only used in inhibitor design so far. Herein, we have investigated the possibility of a biomimetic catalyst based on a Lewis acid approach by exploring the anionic cycloaddition of azide and acetonitrile catalyzed by ZnBr2 in comparison with different biomimetic Zn(II) models...
November 10, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/29071558/the-relation-between-brain-mri-findings-and-blood-manganese-levels-in-renal-transplantation-hemodialysis-and-peritoneal-dialysis-patients
#20
Esra Akcan, Sultan Özkurt, Garip Sahin, Ahmet Ugur Yalcin, Baki Adapinar
PURPOSE: Various factors can affect blood and tissue levels of trace elements in patients with end-stage renal disease. There are a few studies showing hyperintensity of basal ganglia associated with manganese deposition in hemodialysis (HD) patients. The present study aimed to investigate the intensity changes as markers of manganese deposition in the basal ganglia and to demonstrate their association with blood manganese levels using ICP/MS technique in HD, peritoneal dialysis (PD), and renal transplant patients...
October 25, 2017: International Urology and Nephrology
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